ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1484T>C (p.Val495Ala)

dbSNP: rs779810551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002397216 SCV002700832 uncertain significance Cardiovascular phenotype 2024-12-28 criteria provided, single submitter clinical testing The p.V495A variant (also known as c.1484T>C), located in coding exon 11 of the NEXN gene, results from a T to C substitution at nucleotide position 1484. The valine at codon 495 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405911 SCV006070306 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BP4

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